Research of diverse populations advances understanding of type 2 diabetes

Ongoing global research on diverse populations by an international team of scientists, including a genetic epidemiologist from the University of Massachusetts at Amherst, has shed important new light on how genes contribute to type 2 diabetes.

The study was published Thursday, May 12 in Nature Genetics. “Our findings are important as we move toward using genetic scores to weigh a person’s risk of diabetes,” says co-author Cassandra Spracklen, assistant professor of biostatistics and epidemiology at UMass Amherst School. of Public Health and Health Sciences.

The DIAMANTE (DIabetes Meta-ANalysis of Trans-Ethnic association studies) consortium meta-analysis of 122 different genome-wide association studies (GWAS) was co-led by Andrew Morris, Professor of Statistical Genetics at the University of Manchester, and Mark McCarthy and Anubha Mahajan, professors at Oxford University.

“The worldwide prevalence of type 2 diabetes, a life-changing disease, has quadrupled over the past 30 years, affecting an estimated 392 million people in 2015,” says Morris.

The research is a major step towards the ultimate goal of identifying new genes and understanding disease biology, which has the potential to help scientists develop new treatments.

It is also an important step in the development of “genetic risk scores” to identify those most predisposed to developing type 2 diabetes, regardless of demographic background.

The meta-analysis compared the DNA of nearly 181,000 people with type 2 diabetes to 1.16 million people who did not have the disease. By searching the entire human genome for sets of genetic markers called single nucleotide polymorphisms, or SNPs, genome-wide association studies look for genetic differences between people with and without the disease.

The technique allows scientists to focus on parts of the genome implicated in disease risk, which helps identify genes that cause disease.

However, the largest genome-wide association studies of type 2 diabetes have historically involved DNA from people of European descent, which has limited progress in understanding the disease in other groups. of population.

To address this bias, DIAMANTE Consortium scientists have assembled the most diverse collection of disease genetic information in the world, with nearly 50% of individuals drawn from population groups in East Asia, D African, South Asian and Hispanic.

“To date, more than 80% of genomic research of this type has been conducted on white populations of European ancestry, but we know that scores developed exclusively in individuals of one ancestry do not work well in people of different ancestry,” says Spracklen, who helped analyze and coordinate data sharing from populations of East Asian ancestry.

The new paper builds on Spracklen’s previous research identifying genetic associations with type 2 diabetes in populations of East Asian ancestry and identifying genetic associations with diabetes-related traits (fasting blood glucose, fasting insulin , HbA1c) in multi-ancestry populations.

“Because our research included people from different parts of the world, we now have a much more complete picture of how genetic risk patterns for type 2 diabetes vary across populations,” McCarthy says. .

Mahajan adds: “We have now identified 117 genes that may cause type 2 diabetes, 40 of which have not been previously reported. That’s why we think it’s a major step forward in understanding the biology of this disease.

The international study was partly funded by the National Institutes of Health, Wellcome and the UK Medical Research Council.

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